AutismKB 2.0

Annotation Detail for SMARCC2


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Basic Information Top
Gene Symbol:SMARCC2 ( BAF170,CRACC2,DKFZp313D0632,Rsc8 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
Band: 12q13.2
Quick LinksEntrez ID:6601; OMIM: 601734; Uniprot ID:SMRC2_HUMAN; ENSEMBL ID: ENSG00000139613; HGNC ID: 11105
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
283Phosphoserine.
286Phosphoserine.
296Phosphotyrosine.
302Phosphoserine.
304Phosphoserine.
306Phosphoserine.
322Phosphothreonine.
326N6-acetyllysine.
347Phosphoserine.
806Phosphoserine.
810Phosphoserine (By similarity).
Location(AA) Modifications Resource
283Phosphoserine (By similarity).Swiss-Prot 53.0
283PhosphoserinePhospho.ELM 6.0
302Phosphoserine.Swiss-Prot 53.0
302PhosphoserinePhospho.ELM 6.0
304Phosphoserine.Swiss-Prot 53.0
304PhosphoserinePhospho.ELM 6.0
347Phosphoserine.Swiss-Prot 53.0
347PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
46N-linkedHMM predict
113N-linkedHMM predict
173N-linkedHMM predict
212SulfotyrosineHMM predict
230Phosphothreonine(CDC2)HMM predict
257SulfotyrosineHMM predict
257Phosphotyrosine(Syk)HMM predict
257Phosphotyrosine(INSR)HMM predict
273Phosphoserine(PKG)HMM predict
283Phosphoserine(MAPK)HMM predict
302Phosphoserine(PKG)HMM predict
302Phosphoserine(IKK)HMM predict
302Phosphoserine(CDC2)HMM predict
304Phosphoserine(CDC2)HMM predict
304O-linkedHMM predict
304Phosphoserine(ATM)HMM predict
304Phosphoserine(IKK)HMM predict
306Phosphoserine(ATM)HMM predict
306Phosphoserine(CDK)HMM predict
306Phosphoserine(CDC2)HMM predict
306O-linkedHMM predict
308O-linkedHMM predict
308Phosphothreonine(MAPK)HMM predict
308PhosphothreonineHMM predict
308Phosphothreonine(CDC2)HMM predict
308O-linkedHMM predict
308O-linkedHMM predict
322Phosphothreonine(MAPK)HMM predict
367Phosphoserine(CAMK2)HMM predict
391Phosphothreonine(CK2)HMM predict
398N-linkedHMM predict
402N-linkedHMM predict
416N-linkedHMM predict
454N-linkedHMM predict
521O-linkedHMM predict
537Phosphothreonine(MAPK)HMM predict
548Phosphothreonine(CDC2)HMM predict
548Phosphothreonine(MAPK)HMM predict
553Phosphoserine(IKK)HMM predict
598Phosphothreonine(PKC)HMM predict
648Phosphotyrosine(Syk)HMM predict
754Phosphoserine(CK2)HMM predict
791Phosphoserine(CK2)HMM predict
813Phosphoserine(CK1)HMM predict
847Phosphothreonine(PKC)HMM predict
969O-linkedHMM predict
969O-linkedHMM predict
969Phosphoserine(ATM)HMM predict
1000O-linkedHMM predict
1006O-linkedHMM predict
1018Phosphoserine(IKK)HMM predict
1049Phosphoserine(CDC2)HMM predict
1049O-linkedHMM predict
1056Phosphothreonine(CDC2)HMM predict
1056Phosphothreonine(MAPK)HMM predict
1095O-linkedHMM predict
1138O-linkedHMM predict
1151O-linkedHMM predict
1152O-linkedHMM predict
1155O-linkedHMM predict
1165O-linkedHMM predict
1186O-linkedHMM predict
1186Phosphoserine(MAPK)HMM predict
1200O-linkedHMM predict
1203Phosphoserine(CDK)HMM predict
1203O-linkedHMM predict
1203Phosphoserine(CDC2)HMM predict
1206O-linkedHMM predict
1208Phosphothreonine(CDK)HMM predict
1208O-linkedHMM predict
1208Phosphothreonine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003075
  • Location:chr12 54843395-54869543
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 54869494 54869865 371 136
CTCF CD4SISSRdata 54869494 54869865 371 136
CTCF G2GSE9613 54869026 54870382 1356 161
CTCF G2GSE9613 54873001 54873472 471 3693
H3ac HepG2E 54870808 54871447 639 1584
Pol3 GM12878GSE19551 54870070 54870607 537 795
Pol3 K562GSE19551 54870157 54870861 704 966
RARG MCF7GSE15244 54870808 54871152 344 1437
Rb QuiescentGSE19898 54869487 54869949 462 175
Rb QuiescentGSE19898 54870219 54870460 241 796
Sox2 hESGSE18292 54873141 54873438 297 3746
TAF HelaGSE8489 54870808 54871447 639 1584
TAF HelaGSE8489 54873001 54873853 852 3884
TAF HelaGSE8489 54874222 54874993 771 5064
VDR GM10861-UnstimGSE22484 54869138 54871011 1873 531
VDR GM10861-stimGSE22484 54869448 54871030 1582 696
hScc1 BcellGSE12603 54869143 54870017 874 37
hScc1 BcellGSE12603 54872755 54873508 753 3588
hScc1 CdLSGSE12603 54868994 54870195 1201 51
hScc1 CdLSGSE12603 54872934 54873747 813 3797
hScc1 G2GSE9613 54869098 54870129 1031 70
hScc1 G2GSE9613 54873001 54873544 543 3729
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54843917 54844685 768 0
CTCF G2GSE9613 54845505 54845786 281 0
CTCF G2GSE9613 54851594 54851798 204 0
H3K4me2 HCT116GSE10453 54867623 54868883 1260 0
H3K4me3 colorectalcancer 54868232 54868919 687 0
H3ac HepG2E 54867659 54868994 1335 0
NRSF pAbJurkat 54844254 54844815 561 0
Oct1 H2O2-HelaGSE14283 54851867 54851939 72 0
Oct1 HelaGSE14283 54851910 54851953 43 0
RARG MCF7GSE15244 54847780 54848356 576 0
RARG MCF7GSE15244 54851371 54852096 725 0
RARG MCF7GSE15244 54860770 54861034 264 0
p130 QuiescentGSE19898 54843741 54843893 152 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
6129 EST chr12 54842314 54843547 157 mRNA SMARCC2 chr12 54843390 54869544Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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